IthaID: 3686
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | IVS II-672 (A>C) | HGVS Name: | HBB:c.316-179A>C |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CAGTGATAATTTCTGGGTTAAGGCAATAGCAATATCTCTGC [A/C] TATAAATATTTCTGCATATAAATTGTAACTGATGTAAGAGG (Strand: +)
Comments: Found in two individuals, a Chinese female and a Malay male. The 71-year-old female presented with severe decreased levels of MCV (63 fL) and MCH (19.3 pg). The 27-year-old male presented with mild decreased levels of MCV (76.8 fL) and MCH (26.1 pg) but with elevated Hb A2 (3.8 %).
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71711 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Intron 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Malay, Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
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Frequencies
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Mohd Yasin, Norafiza | 2020-10-20 | First report. |
Created on 2020-10-27 14:13:51,
Last reviewed on 2023-03-07 13:02:58 (Show full history)
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